Variant report

Variant	rs12070612
Chromosome Location	chr1:222153647-222153648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10863674	0.88[EUR][1000 genomes]
rs11118911	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11118921	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118922	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118923	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118924	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11118925	0.91[EUR][1000 genomes]
rs11118929	0.82[EUR][1000 genomes]
rs12082069	0.82[EUR][1000 genomes]
rs12083686	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12090915	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12403104	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17441981	0.92[EUR][1000 genomes]
rs17442148	0.81[ASN][1000 genomes]
rs17495034	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2225999	0.88[EUR][1000 genomes]
rs34601597	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34736719	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4291507	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4565720	0.88[ASN][1000 genomes]
rs59826275	0.84[ASN][1000 genomes]
rs61823898	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7517045	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7538348	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222146200-222163800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:222148800-222154800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:222152400-222156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:222152600-222154600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:222152600-222157200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:222152800-222156200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:222153000-222154200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:222153200-222161400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:222153200-222163800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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